14 research outputs found

    qPCR validation of the newly discovered P6 duplication.

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    <p>Amplification plots for a female (green), a control male (purple) and a male with P6 dupl. (blue) are shown for markers RH38681 (A), sY1081 (B) and sY933 (C). D. Intensity signal plot (Log 2 ratio) for an individual with P6 dupl. showing that markers sY1081 and sY933 are positioned within the duplicated region, while RH38681 is located outside.</p

    Y chromosome CNV discovery in a Norwegian population.

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    <p>A. Signal intensity plot (Log 2 ratio) for a control male without CNV variants. Signals from each of the 8179 probes are represented by one dot. B. Regions of the Y chromosome containing ampliconic and palindromic sequences are represented by colored arrows using the same nomenclature as in Repping et al. [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0137223#pone.0137223.ref041" target="_blank">41</a>]. The same colors were used to represent the signal intensity of the corresponding regions in the rest of the figure. Not all ampliconic sequences are covered by SNP/CN probes in the array. The lower part of Fig 2B includes only detectable regions. C to I. Signal intensity plots (Log 2 ratio) for different type of CNVs discovered in a Norwegian population. The lower part of each subfigure shows the name of each CNV following the nomenclature used in Repping et al. [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0137223#pone.0137223.ref041" target="_blank">41</a>]. Staples delineate the positions of duplications (on the top of the figure) or deletions (on the bottom). J. Signal intensity plot for a previously undescribed duplication hereby named P6 dupl.</p

    Distribution and frequency of CNV patterns significantly overrepresented within haplogroups.

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    <p>The table shows the distribution of CNV patterns among haplogroups for ten variants that showed overrepresentation in one or more haplogroups. Ambiguous individuals, for which haplotype determination was not possible, are shown in the table for completeness, but they were not included in the statistical analysis. The p-values after Pearson Chi-Square analysis, likelihood ratio and Fisher’s exact test are shown at the bottom of the table, together with the total amount of each CNV type. The % frequency is derived from CNV type observations divided by 1506 individuals for which haplogroup could be determined. The stars mark values that are significant with the standard residual indicated in parenthesis. (Ind.) individuals, (dupl) duplication, (del) deletion and (nd) not done.</p><p>Distribution and frequency of CNV patterns significantly overrepresented within haplogroups.</p

    Return to Craven's Cove: A Feminist Slasher Film

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    abstract: For this creative project and critical essay, I attempt to create a feminist screenplay within the horror sub-genre, the slasher film, based upon the works of acclaimed feminist film theorists, Laura Mulvey, Linda Williams, and Carol J. Clover. In each theorist's work, they discuss the ever present male dominant climate of narrative cinema, highlighting the misogynistic undertones of the horror genre along the way. Primarily focusing on the conventions of the slasher genre, as outlined in Clover's psychoanalytic examination of the slasher, I attempt to push the genre as far as possible to be something that fulfills the status of slasher film, as well as something that can be considered feminist

    Politika celoživotního vzdělávání Evropské unie a její aplikace v České republice

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    Alignment of transcripts for PCDH11X/Y and NLGN4X/Y. The colours represent percentage of identity in each region with dark blue corresponding to 100 % identity. The name of each transcript is given according to UCSC nomenclature with accession numbers in parenthesis. The limits between exon sequences are marked with red vertical lines. The exact position of each exon in the gene (hg 19) is given in Additional file 8: Table S4. The positions for padlock probes P1 to P5 are indicated at the bottom. In these positions, all X transcripts differ from all Y transcripts by one nucleotide. The exact positions (hg 19) of the nucleotide differences and the complete padlock probe sequences are shown in Additional file 9: Table S5. Alignments for transcripts of NLGN4X/Y. The positions of padlock probes N1 to N4 are indicated at the bottom. These probes are located in exons 3, 5 and 6. (TIF 869 kb

    Sample distribution and frequency of any CNV in each haplogroup.

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    <p>From a total of 1718 individuals, 1506 could be assigned to specific haplogroups based on a limited set of phylogenetically informative Y-SNPs within the Affymetrix 6.0 arrays. The table shows the distribution among haplogroups for these individuals, as well as the frequency of CNVs within each haplogroup. The highest frequency (95%) of CNVs was found among individuals of NO-M214(xM175) haplogroup.</p><p>Sample distribution and frequency of any CNV in each haplogroup.</p

    Principal component analysis of Y chromosome specific SNP variation between haplogroups.

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    <p>A. The figure shows the graphical representation of the first two eigenvectors after PCA analysis. Y-axis corresponds to the first vector explaining 24.1% of the variation and X-axis explains 13.4% of the remaining variation. Each dot represents the results from one individual and the colour represent each HG as denoted by letters in the figure. The plus symbols in black denote individuals for which HG determination was ambiguous. The black triangles denote individuals for which no HG could be assigned. B. The results from the individuals carrying the blue-grey dupl are represented in blue, while the results from individuals carrying “blue-grey like dupl.” are in red. All cases are included within the NO-M214(xM175) haplogroup. In total 11 individuals carry these variants (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0137223#pone.0137223.t001" target="_blank">Table 1</a>) but they are superimposed in the figure, due to high similarity between their HG.</p

    Distribution of CNV patterns that were significantly overrepresented in one haplogroup only.

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    <p>Each part of the figure shows the graphical representation of the first two eigenvectors after PCA analysis A. The figure shows PCA values for individuals with P3 dupl. significantly overrepresented in haplogroup E-M96. B. Individuals with b2/b3 del. significantly overrepresented in haplogroup NO-M214(xM175). C. Individuals with gr/gr del. (c8) significantly overrepresented in haplogroup D-M174. This CNV is also present in other haplogroups. D. Individuals with gr/gr dupl. (c9) + distal dupl. significantly overrepresented in haplogroup J-P256.</p

    Additional file 2: Figure S1. of Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

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    Example of the objective analysis of spatial expression image data. Kernel density estimation (KDE) plots of PCDH11X/Y transcript signals detected in embryonic brain tissue are shown in a. At the top, the KDE plot of PCDH11X (cyan) has been merged with the one of PCDH11Y (red). From the separate KDE plots, two clear features can be distinguished; the Y homolog is more evenly expressed over the whole tissue while the X homolog shows higher expression in confined regions, namely along the lower edge and at the tip to the right. The observed spatial distribution of X and Y signals is compared to a random distribution in the histogram b, based on the relative contribution of X and Y signal intensity in each pixel in the KDE plot. The distribution of pixels in the KDE plot is shown as a blue line together with the average of 100 randomized data sets as a red line. Pixels deviating in number from what would be expected by chance (Âą3 SD from averaged random) are shown as a yellow dots on the blue line. The bar chart in b shows that we have a higher number of pixels classified as Y-dominant than we have X-dominant pixels, confirming our observations in the KDE plots in a that some regions express the Y homolog to a higher extent than the X homolog. Pixels in the observed signal distribution deviating more than 3 standard deviations from the random signal distribution, are plotted back onto the tissue in c and further confirms the patterns of X and Y homolog expression observed in a. The Y homolog shows dominant expression along the upper edge of the tissue section while the lower edge of the tissue section is dominated by mixed pixels (signal contribution from both the homologs). (TIF 623 kb

    <i>qki2</i> and <i>qkib</i> are absent from differentiated neurons in developing zebrafish.

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    <p>Representative images of combined <i>in situ</i> hybridization and immunofluorescence detecting <i>qki2</i> (A) and <i>qkib</i> probes <b>(B)</b>, both shown in red. HuC/D antibody is shown in green. Images shown are within the forebrain, hindbrain and spinal cord.</p
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